多发性骨髓瘤患者免疫球蛋白重链基因重排的检测及意义

Application of detection of IgH gene rearrangements in the patients with multiple myeloma

目的 探讨免疫球蛋白重链 (IgH)基因重排在多发性骨髓瘤 (MM)诊治中的应用。方法 采用半巢式PCR技术 ,分别用MM患者的IgH基因的CDR2和CDR3区的两组引物 ,对 6 1份MM患者的骨髓和外周血单个核细胞进行扩增。结果 2 7份骨髓标本中 ,IgH基因重排Fr2A阳性率为 70 .4 % (19/ 2 7) ,34份外周血标本阳性率 5 8.8% (2 0 / 34)。骨髓标本的Fr2A阳性率略高于外周血标本 ,而Fr3A的阳性率两者无明显差异。MM患者的IgH基因重排与Ig型别、临床分期及浆细胞数有关。IgG型IgH基因重排阳性率高于IgA型及轻链型 ;III期患者IgH基因重排阳性率高于I、II期患者 ;浆细胞数大于 5 %时 ,IgH基因重排阳性率略高 ;7例达临床完全缓解的患者中 ,仅有 1例IgH基因重排Fr2A、Fr3A均转为阴性。结论 PCR技术检测MM患者IgH基因重排可作为诊断、疗效观察、预后判断及微小残留病监测的参考指标之一。

Objective To study the application of immunoglobulin heavy chain (IgH) gene rearrangement in the diagnosis and therapy of multiple myeloma (MM).Methods The CDRII (Fr2A) and CDRIII (Fr3A) region of IgH in the samples of both bone marrow and blood from 61 MM patients were amplified by using semi-nested polymerase chain reaction (PCR).Results The positive frequency of Fr2A (70.4%,19/27) in 27 bone marrow samples was slightly higher than that in blood samples (58.8%, 20/34). However, no difference in the positive frequency of Fr3A between bone marrow and blood was found.The IgH gene rearrangement was correlated with clinical types, stages and the number of plasmacytes.The frequency of IgH gene rearrangement in patients with IgG type of MM was higher than that in IgA type and light chain type.It was also higher in stage Ⅲ patients than that in stage Ⅰ and Ⅱ.IgH gene rearrangement was more frequently occurred in the patients whose number of plasmacytes was more than 5%. Of 7 clinically complete remissive MM patients both of Fr2A and Fr3A turning to be negative only happened in one.Conclusion Detection of IgH rearrangements by PCR is a simple, fast method to diagnose, estimate the effect of treatments and monitor the minimal residual focus in the MM patients.